{"id":"W2166005365","doi":"10.1002/pd.4279","title":"Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally","year":2013,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre hospitalier universitaire de Québec; Centre Hospitalier Universitaire de Sherbrooke; Université de Sherbrooke; Cégep de Chicoutimi; Mount Sinai Hospital","funders":"","keywords":"Cornelia de Lange Syndrome; Medicine; Prenatal diagnosis; Pediatrics; Retrospective cohort study; Cohort; Obstetrics; Pregnancy; Internal medicine; Genetics; Fetus; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007872662,0.0001360091,0.0001925552,0.00004640589,0.0000190626,0.00001343447,0.0002178338,0.0001187164,0.0001348311],"category_scores_gemma":[0.000188306,0.0001369265,0.00009814653,0.00006908265,0.0000774193,0.000008409576,0.0001285776,0.00004827049,0.000010402],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000126197,"about_ca_system_score_gemma":0.00004311084,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005352423,"about_ca_topic_score_gemma":0.00003949444,"domain_scores_codex":[0.9991782,0.00004013721,0.000291452,0.0001939654,0.0001152374,0.0001810299],"domain_scores_gemma":[0.9992483,0.00005292104,0.0001840547,0.0003109091,0.0001326691,0.0000711162],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00005372303,0.000700375,0.1308938,0.0009266241,0.0003781906,0.0001118733,0.0003101013,0.00222183,0.8558162,0.0005431916,0.003011174,0.005032979],"study_design_scores_gemma":[0.0006910104,0.000510204,0.1190085,0.0001169768,0.00005287208,0.00009986795,0.00007636783,0.001240299,0.8776211,0.000165717,0.0001845624,0.0002325176],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977907,0.0009165328,0.0003278035,0.00004775067,0.0000447517,0.0003157436,0.0002475549,0.000009076984,0.000300114],"genre_scores_gemma":[0.9980575,0.0003569942,0.0008723853,0.00006346439,0.0000151664,0.000180433,0.0003960629,0.00002161715,0.00003633517],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02180492,"threshold_uncertainty_score":0.5583699,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006276661025937088,"score_gpt":0.2121442994337256,"score_spread":0.2058676384077885,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}